Systematic analysis of genetic variants in cancer-testis genes identified two novel lung cancer susceptibility loci in Chinese population

Li, Zhihua; Tang, Jianwei; Wen, Wei; Wu, Weibing; Wang, Jun; Xu, Jing; Yu, Yue; He, Zhicheng; Pan, Xianglong; Wei, Haixing; Zhu, Yining; Hu, Shuo; Cao, Jing; Shen, Hongbing; Que, Jun; Wang, Wei; Zhu, Quan; Chen, Liang

doi:10.7150/jca.40002

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J Cancer 2020; 11(7):1985-1993. doi:10.7150/jca.40002 This issue Cite

Research Paper

Systematic analysis of genetic variants in cancer-testis genes identified two novel lung cancer susceptibility loci in Chinese population

Zhihua Li^1*, Jianwei Tang^1*, Wei Wen^1*, Weibing Wu¹, Jun Wang¹, Jing Xu¹, Yue Yu¹, Zhicheng He¹, Xianglong Pan¹, Haixing Wei¹, Yining Zhu¹, Shuo Hu¹, Jing Cao¹, Hongbing Shen^2,3, Jun Que¹, Wei Wang¹, Quan Zhu^1✉, Liang Chen^1✉

1. Department of Thoracic Surgery, The First Affiliated Hospital of Nanjing Medical University, Nanjing, 210029, China.
2. Department of Epidemiology, Center for Global Health, International Joint Research Center, School of Public Health, Nanjing Medical University, Nanjing, Jiangsu, China.
3. Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Jiangsu Collaborative Innovation Center of Cancer Personalized Medicine, Nanjing Medical University, Nanjing, 211166, China.
*These authors contributed equally to this work.

Citation:

Li Z, Tang J, Wen W, Wu W, Wang J, Xu J, Yu Y, He Z, Pan X, Wei H, Zhu Y, Hu S, Cao J, Shen H, Que J, Wang W, Zhu Q, Chen L. Systematic analysis of genetic variants in cancer-testis genes identified two novel lung cancer susceptibility loci in Chinese population. J Cancer 2020; 11(7):1985-1993. doi:10.7150/jca.40002. https://www.jcancer.org/v11p1985.htm

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Abstract

Cancer-testis (CT) genes played important roles in the progression of malignant tumors and were recognized as promising therapeutic targets. However, the roles of genetic variants in CT genes in lung cancer susceptibility have not been well depicted. This study aimed to evaluate the associations between genetic variants in CT genes and lung cancer risk in Chinese population. A total of 22,556 qualified SNPs from 268 lung cancer associated CT genes were initially evaluated based on our previous lung cancer GWAS (Genome-wide association studies) with 2,331 cases and 3,077 controls. As a result, 17 candidate SNPs were further genotyped in 1,056 cases and 1,053 controls using Sequenom platform. Two variants (rs6941653, OPRM1, T > C, screening: OR = 1.24, 95%CI: 1.12-1.38, P = 2.40×10^-5; validation: OR = 1.18, 95%CI: 1.01-1.37, P = 0.039 and rs402969, NLRP8, C > T, screening: OR = 1.15, 95%CI: 1.04-1.26, P = 0.006; validation: OR = 1.16, 95%CI: 1.02-1.33, P = 0.028) were identified as novel lung cancer susceptibility variants. Stratification analysis indicated that the effect of rs6941653 was stronger in lung squamous cell carcinoma (OR = 1.36) than that in lung adenocarcinoma (OR = 1.15, I² = 77%, P = 0.04). Finally, functional annotations, differential gene expression analysis, pathway and gene ontology analyses were performed to suggest the potential functions of our identified variants and genes. In conclusion, this study identified two novel lung cancer risk variants in Chinese population and provided deeper insight into the roles of CT genes in lung tumorigenesis.

Keywords: cancer-testis genes, lung cancer susceptibility, single nucleotide polymorphisms, Chinese population, Sequenom platform

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APA

Li, Z., Tang, J., Wen, W., Wu, W., Wang, J., Xu, J., Yu, Y., He, Z., Pan, X., Wei, H., Zhu, Y., Hu, S., Cao, J., Shen, H., Que, J., Wang, W., Zhu, Q., Chen, L. (2020). Systematic analysis of genetic variants in cancer-testis genes identified two novel lung cancer susceptibility loci in Chinese population. Journal of Cancer, 11(7), 1985-1993. https://doi.org/10.7150/jca.40002.

ACS

Li, Z.; Tang, J.; Wen, W.; Wu, W.; Wang, J.; Xu, J.; Yu, Y.; He, Z.; Pan, X.; Wei, H.; Zhu, Y.; Hu, S.; Cao, J.; Shen, H.; Que, J.; Wang, W.; Zhu, Q.; Chen, L. Systematic analysis of genetic variants in cancer-testis genes identified two novel lung cancer susceptibility loci in Chinese population. J. Cancer 2020, 11 (7), 1985-1993. DOI: 10.7150/jca.40002.

NLM

CSE

Li Z, Tang J, Wen W, Wu W, Wang J, Xu J, Yu Y, He Z, Pan X, Wei H, Zhu Y, Hu S, Cao J, Shen H, Que J, Wang W, Zhu Q, Chen L. 2020. Systematic analysis of genetic variants in cancer-testis genes identified two novel lung cancer susceptibility loci in Chinese population. J Cancer. 11(7):1985-1993.

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